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Tmlhe Gene Detail
Summary
  • Symbol
    Tmlhe
  • Name
    trimethyllysine hydroxylase, epsilon
  • Synonyms
    Bbox2, D430017M14Rik, TMLH
  • Feature Type
    protein coding gene
  • IDs
    MGI:2180203
    NCBI Gene: 192289
  • Alliance
    gene page
Location &
Maps
more
  • Sequence Map
    Genome coordinates not available from the current reference assembly.
  • This gene is annotated to Unlocalized Scaffold from chromosome X, MMCHRX_RANDOM_CTG2 (GL456233.2, NT_165789.3) of Assembly GRCm39. UCSC coordinates are chrX_GL456233_random:159604-334431 bp, + strand.
  • Genetic Map
    Chromosome X, Syntenic
Homology
more
  • Human Ortholog
    TMLHE, trimethyllysine hydroxylase, epsilon
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TMLHE, trimethyllysine hydroxylase, epsilon
  • Synonyms
    AUTSX6, BBOX2, TMLD, TMLH, TMLHED, XAP130
  • Links
    NCBI Gene ID: 55217
    neXtProt AC: NX_Q9NVH6
    UniProt: Q9NVH6

  • Chr Location
    Xq28; chrX:155489011-155719098 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human TMLHE associations

Human Disease Mouse Models
      
IDs
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Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 2 alleles in 2 genetic backgrounds
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null males show decreased acylcarnitine concentrations in blood and cardiac tissues and decreased fatty acid oxidation. Ischemia-reperfusion-induced damage in cardiac mitochondria and infract size are reduced.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    16
  • GO References
    9
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    22
  • Tissues
    18
  • cDNA Data
    17
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    • All Sequences
      16
    • RefSeq
      7
    • UniProt
      1
    Representative SequencesLengthStrain/SpeciesFlank
    genomic GL456233 GenBank | ENA | DDBJ | MGI Sequence Detail 559103 C57BL/6J ±  kb
    transcript NM_138758 RefSeq | MGI Sequence Detail 2257 ZRU/MplStud  
    polypeptide Q91ZE0 UniProt | EBI | MGI Sequence Detail 421 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 17
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1346032, MGI:2443676
    References
    more
    • Summaries
      All 27
      Developmental Gene Expression 1
      Gene Ontology 9
      Phenotypes 5
    • Earliest
      J:76186 Vaz FM, et al., Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis. J Biol Chem. 2001 Sep 7;276(36):33512-7
    • Latest
      J:341248 Liepinsh E, et al., Knockout of Tmlhe in mice is not associated with autism spectrum disorder phenotypes or motor dysfunction despite low carnitine levels. Mol Autism. 2023 Aug 8;14(1):29
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory